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    An IVS-I-117 (G-->A) acceptor splice site mutation in the alpha 1-globin gene is a nondeletional alpha-thalassaemia-2 determinant in an Indian population
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    1. ClingenBaseline 24 Oct 2026

      Case#: Cluruk_1993_IN-16, male, 13 y.o., Indian ancestry reported (Mandla and Jabalpur districts of Madhya Pradesh)

      CasePresentingHPOs: decreased RBCs (3.34), decreased Hb (9.2), elevated HbS (68.2), elevated HbF (21.9), MCH 27.5%, HB A2 4.5%, HB A 5.4%

      CaseHPOFreeText: S - B+ - thal (aax/aax) x = variant

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting:

      CaseMethod1: Sanger

      CaseMethod2: hybridization probing

      CaseGenotypingMethod: Sanger + probing

      Variant: NM_000558.5(HBA1):c.96-1G>A

      ClinVarID: 801169

      CAID: CA7770244

      gnomAD: allele frequency of 0.0009851 (21/21318 alleles) in the South Asian population (PopMax 0.0006591)

      VariantEvidence: Also seen in compound het with 4 patients with a4.2 deletion and 7 patients with 3.7 deletion in this paper. Heterozygotes (aa/aax) had similar levels of Hb S

      CaseAddInfo:

      CasePMIDs:

      Case Individual CaseInfo ClinVarID:801169 CAID:CA7770244 inferred_gene_hgnc:4823 inferred_gene_source:CAID UNC Biocuration Core
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    onlinelibrary.wiley.com/doi/abs/10.1111/j.1365-2141.1993.tb08658.x